These are cases from primary care. Would you know how to respond to these patients?

What the evidence says about the need for genetics in primary care

Patients who have a query about a disorder with an actual or potential genetic component will initially seek advice from a health professional. In most cases the first enquiry will be directed at primary care. However, primary care physicians report that they lack sufficient knowledge of genetics relevant for daily practice and feel inadequate to deliver genetic services (1, 2)

Although genetic diseases are individually rare, it is estimated that approximately 7% of Europeans are affected by a rare disease: totalling 30 million individuals. According to rare diseases organisations (3), 80% of rare diseases have a genetic component. A significant number of patients who seek information and support in primary care will therefore have concerns about one of those conditions.

There is evidence that patients at risk of genetic disease may not be recognised, while those who seek advice about their risks of rare genetic diseases may not be referred or managed appropriately by health professionals(4). This may relate to lack of awareness of the family that a condition may have a genetic component, or may be due to lack of knowledge in primary care professionals that this may be so. This is important because undetected genetic risk can have serious consequences for the entire family, for example through preventing access to screening or preventive drugs or surgery (e.g. for cancer), resulting in increased morbidity, mortality, family burden and healthcare costs. Thus, raising awareness of the risks and potential management of such cases is important for the patient and the wider family.

Baars MJH, Henneman L, Ten Kate LP. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics In Medicine: Official Journal Of The American College Of Medical Genetics. 2005;7(9):605-10.